STAG1 rs114462013: Understanding This Rare Genetic Variant
The rs114462013 variant is a rare genetic change located within the STAG1 gene. It has been identified in genome-wide association studies as a potential biomarker linked to variability in how individuals respond to certain medications.
What each genotype means
Typical drug response profile
This genotype represents the most common genetic sequence observed at this location in the STAG1 gene. Current research indicates this is the baseline state, and there is no evidence suggesting it contributes to atypical drug response variability. Please consult with your healthcare provider or pharmacist regarding any specific medication concerns.
This is the most frequent genotype found across global populations.
Potential drug response variation
Carrying one copy of this variant may be associated with differences in how your body processes certain medications, as identified in preliminary genome-wide association studies. Because this variant is rare and the functional impact is not fully established, the clinical significance remains uncertain. You should discuss your medication history and any concerns about drug response with your clinician or pharmacist.
This genotype is rare and observed at very low frequencies across most studied ancestral groups.
Potential drug response variation
Carrying two copies of this variant may be associated with differences in how your body processes certain medications, as identified in preliminary genome-wide association studies. Because this variant is rare and the functional impact is not fully established, the clinical significance remains uncertain. You should discuss your medication history and any concerns about drug response with your clinician or pharmacist.
This genotype is extremely rare and is found in a very small fraction of the population.
What is rs114462013 and Where is it Located?
The identifier rs114462013 refers to a specific single nucleotide polymorphism (SNP) located within the STAG1 gene. In human genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. The STAG1 gene itself is situated on the long arm of chromosome 3 at position 22.3 (3q22.3). This region is involved in complex cellular processes, and variants here are studied for their potential to influence gene expression or protein function. Because rs114462013 is classified as a rare variant, it is not found in the majority of the population, making it a subject of interest for researchers investigating how specific, less common genetic differences might contribute to individual biological diversity or clinical outcomes.
The Role of the STAG1 Gene
The STAG1 gene provides instructions for creating a protein that is a key component of the cohesin complex. The cohesin complex is a ring-shaped structure that holds sister chromatids together during cell division, ensuring that chromosomes are correctly segregated into daughter cells. Beyond its role in mitosis, the cohesin complex is essential for regulating 3D genome architecture, which influences how genes are turned on or off within the cell. Research has shown that STAG1 is involved in binding to distal enhancer elements, which helps control the expression of various genes. Because of its fundamental role in maintaining genomic stability and regulating gene activity, mutations or variations in STAG1 are often studied in the context of developmental disorders, cancer research, and cellular health.
Research Associations and Evidence Strength
The association between rs114462013 and drug-response variability is currently supported by moderate evidence from genome-wide association studies (GWAS). In the context of pharmacogenetics, researchers look for SNPs that correlate with how well a patient responds to a specific treatment or whether they experience adverse reactions. While some studies have flagged this variant as a potential predictive biomarker, it is important to note that the evidence is still evolving. Many genetic associations identified in initial studies require further validation across larger, more diverse cohorts to confirm their clinical utility. Currently, the scientific community views this variant as a signal that warrants further investigation rather than a definitive diagnostic tool for clinical decision-making.
Population Frequency
The rs114462013 variant is characterized as rare across global populations. This means that the vast majority of individuals carry the common, or reference, allele at this position, while only a very small fraction of the population carries the alternative allele associated with this specific SNP.
What You Can and Cannot Do With This Information
It is important to understand that genetic information regarding variants like rs114462013 is intended for educational and research purposes. You cannot use this information to diagnose yourself with a condition or to predict with certainty how you will respond to any medication. Genetic markers are only one piece of a much larger puzzle that includes environmental factors, lifestyle, and other genetic influences. If you have questions about your genetic profile or how a specific medication might affect you, you should consult with a qualified healthcare provider or a pharmacist. They are the only professionals qualified to interpret genetic data in the context of your personal medical history and to provide guidance on treatment options or dosing adjustments.
How common is this variant?
The rs114462013 variant is classified as rare, appearing at a very low frequency across most ancestral groups studied in large-scale genomic databases.
Frequently asked questions
Is rs114462013 a diagnostic test for a disease?
No, rs114462013 is not a diagnostic test. It is a genetic variant identified in research studies, and its presence does not confirm the presence or absence of any medical condition.
Should I change my medication based on this variant?
You should never change your medication or dosage based on genetic information without speaking to your doctor. Always discuss your genetic results with a clinician or pharmacist who can provide appropriate medical advice.
Why is this variant called 'rare'?
A variant is called rare when it is found in only a very small percentage of the population. Most people carry the common, or reference, version of the DNA sequence at this specific location.
Where can I find more information about STAG1?
You can find reliable information about the STAG1 gene through resources like the NCBI Gene database or MedlinePlus Genetics. These sites provide comprehensive summaries of gene functions and their roles in human health.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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